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Absent cupid bow

MedGen UID:
488985
Concept ID:
C2053435
Finding
Synonym: Absent cupid's bow
 
HPO: HP:0010800

Definition

Lack of paramedian peaks and median notch of the upper lip vermilion. [from HPO]

Term Hierarchy

Conditions with this feature

Skraban-Deardorff syndrome
MedGen UID:
1627555
Concept ID:
C4539927
Disease or Syndrome
WDR26-related intellectual disability (ID) is characterized by developmental delay / intellectual disability, characteristic facial features, hypotonia, epilepsy, and infant feeding difficulties. To date 15 individuals, ages 24 months to 34 years, have been reported. Developmental delay is present in all individuals and ranges from mild to severe. All individuals have delayed speech. Although some begin to develop speech in the second year, others have remained nonverbal. Seizures, present in all affected individuals reported to date, can be febrile or non-febrile (tonic-clonic, absence, rolandic seizures); most seizures are self limited or respond well to standard treatment. Affected individuals are generally described as happy and socially engaging; several have stereotypies / autistic features (repetitive or rocking behavior, abnormal hand movements or posturing, and at times self-stimulation).

Recent clinical studies

Etiology

Wilson C, Playle R, Toma A, Zhurov A, Ness A, Richmond S
Am J Med Genet A 2013 Jan;161A(1):4-12. Epub 2012 Dec 3 doi: 10.1002/ajmg.a.35515. PMID: 23208817
Roelofse MM, Steyn M, Becker PJ
Forensic Sci Int 2008 May 20;177(2-3):168-75. Epub 2008 Feb 19 doi: 10.1016/j.forsciint.2007.12.003. PMID: 18243614
Mulliken JB, Burvin R, Padwa BL
Plast Reconstr Surg 2003 Mar;111(3):1000-10. doi: 10.1097/01.PRS.0000046244.08487.BF. PMID: 12621169
Sawada Y, Koga Y, Nihei Y, Urushidate S
Br J Plast Surg 1996 Oct;49(7):466-7. doi: 10.1016/s0007-1226(96)90032-6. PMID: 8983549
Noordhoff MS, Huang CS, Lo LJ
Plast Reconstr Surg 1993 May;91(6):996-1005; discussion 1006-7. PMID: 8480000

Diagnosis

Kulkarni ML, Vani HN, Nagendra K, Mahesh TK, Kumar A, Haneef S, Mohammed Z, Kulkarni PM
Indian J Pediatr 2006 Apr;73(4):353-5. doi: 10.1007/BF02825832. PMID: 16816498

Prognosis

Sawada Y, Koga Y, Nihei Y, Urushidate S
Br J Plast Surg 1996 Oct;49(7):466-7. doi: 10.1016/s0007-1226(96)90032-6. PMID: 8983549

Clinical prediction guides

Mulliken JB, Pensler JM, Kozakewich HP
Plast Reconstr Surg 1993 Sep;92(3):395-403; discussion 404. PMID: 8341737

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